| Disease ID | Disease name | Source of annotation with SMC1A | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS122470 | CORNELIA DE LANGE SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | RAD21, TAF6, HDAC8, KMT2A, SMC1A, SMC3, NIPBL |
| 605130 | WIEDEMANN-STEINER SYNDROME | ClinVar | link to OMIM | 2 | SMC1A, KMT2A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Cell cycle | hsa04110 | 5.68 |
| Oocyte meiosis | hsa04114 | 5.91 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Separation of Sister Chromatids | R-HSA-2467813 | 5.55 |
| Meiotic synapsis | R-HSA-1221632 | 7.18 |
| Processing of Capped Intron-Containing Pre-mRNA | R-HSA-72203 | 6.1 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Resolution of Sister Chromatid Cohesion | R-HSA-2500257 | 6.18 |
| mRNA Splicing | R-HSA-72172 | 6.15 |
| Gene Expression | R-HSA-74160 | 2.72 |
| Cell Cycle, Mitotic | R-HSA-69278 | 4.16 |
| SUMOylation | R-HSA-2990846 | 6.68 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| M Phase | R-HSA-68886 | 4.87 |
| Mitotic Telophase/Cytokinesis | R-HSA-68884 | 9.18 |
| Mitotic Anaphase | R-HSA-68882 | 5.46 |
| Establishment of Sister Chromatid Cohesion | R-HSA-2468052 | 9.52 |
| mRNA Splicing - Major Pathway | R-HSA-72163 | 6.15 |
| Mitotic Metaphase and Anaphase | R-HSA-2555396 | 5.45 |
| SUMO E3 ligases SUMOylate target proteins | R-HSA-3108232 | 6.77 |
| S Phase | R-HSA-69242 | 6.02 |
| Meiosis | R-HSA-1500620 | 6.59 |
| Cohesin Loading onto Chromatin | R-HSA-2470946 | 9.66 |
| SUMOylation of DNA damage response and repair proteins | R-HSA-3108214 | 6.77 |
| Mitotic Prometaphase | R-HSA-68877 | 6.08 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| nucleotide binding | GO:0000166 | 1.96 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| protein complex binding | GO:0032403 | 3.09 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| ATP binding | GO:0005524 | 2.43 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| small molecule binding | GO:0036094 | 1.89 |
| chromatin binding | GO:0003682 | 3.64 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |
| mediator complex binding | GO:0036033 | 8.35 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |